Rapid detection of BRCA1 mutations by the protein truncation test
| Autor: | M. Bout, Fbl Hogervorst, Peter Devilee, Bert Bakker, Jan C. Oosterwijk, Renske Olmer, H Meijers Heijboer, Jgm Klijn, J.T. den Dunnen, H. F. A. Vasen, Gjb van Ommen, Fred H. Menko, Cees J. Cornelisse, R.S. Cornelis, M. van Vliet |
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| Přispěvatelé: | Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 1995 |
| Předmět: |
endocrine system diseases
Genetic Linkage Protein Conformation RNA Splicing DNA Mutational Analysis Nonsense mutation Breast Neoplasms Biology medicine.disease_cause FAMILIAL BREAST Exon Genetics medicine LINKAGE Humans Coding region skin and connective tissue diseases Gene Ovarian Neoplasms Mutation BRCA1 Protein RNA Cancer DNA Exons Middle Aged medicine.disease CANCER Neoplasm Proteins Haplotypes Female Ovarian cancer Transcription Factors |
| Zdroj: | Nature Genetics, 10(2), 208-212. Nature Publishing Group ResearcherID Nature genetics, 10(2), 208-212. Nature Publishing Group |
| ISSN: | 1061-4036 |
| DOI: | 10.1038/ng0695-208 |
| Popis: | textabstractMore than 75% of the reported mutations in the hereditary breast and ovarian cancer gene, BRCA1, result in truncated proteins. We have used the protein truncation test (PIT) to screen for mutations in exon 11, which encodes 61 % of BRCA1. In 45 patients from breast and/or ovarian cancer families we found six novel mutations: two single nucleotide insertions, three small deletions (1−5 bp) and a nonsense mutation identified two unrelated families. Furthermore, we were able to amplify the remaining coding region by RT−PCR using lymphocyte RNA. Combined with PTT, we detected aberrantly spliced products affecting exons 5 and 6 in one of two BRCA1−linked families examined. The protein truncation test promises to become a valuable technique in detecting BRCA1 mutations. |
| Databáze: | OpenAIRE |
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